Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects. (Q37932929)

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12 February 2020

review article

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title

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects (English)

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12 February 2020

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12 February 2020

Léon-Charles Tranchevent

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author name string

J Breckpot

1

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Y Arens

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J R Vermeesch

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Y Moreau

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M Gewillig

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K Devriendt

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publication date

13 September 2011

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Cytogenetics and Genome Research

12 February 2020

published in

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volume

135

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issue

3-4

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page(s)

251-259

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Collaboratively charting the gene-to-phenotype network of human congenital heart defects

12 February 2020

cites work

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Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms

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Detection of clinically relevant exonic copy-number changes by array CGH.

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A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

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Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

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A newborn with unusual morphology: some practical aspects

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De novo rates and selection of large copy number variation

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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

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Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

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Strong association of de novo copy number mutations with autism

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Large recurrent microdeletions associated with schizophrenia

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The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning

21 January 2018

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

21 January 2018

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Partial duplications of the ATRX gene cause the ATR-X syndrome.

21 January 2018

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Haploinsufficiency of TAB2 causes congenital heart defects in humans

21 January 2018

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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Genetic factors in non-syndromic congenital heart malformations

21 January 2018

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High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

21 January 2018

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Role of TBX1 in human del22q11.2 syndrome

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Microduplication and triplication of 22q11.2: a highly variable syndrome

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Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

21 January 2018

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High Incidence of Cardiac Malformations in Connexin40-Deficient Mice

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Identifiers

DOI

10.1159/000331272

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12 February 2020

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